ClinVar Miner

Variants in gene ARID1B

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
225 68 139 117 36 1 2 546

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 114 24 46 19 8 0 1 211
Coffin-Siris syndrome 1 83 28 31 1 0 0 1 141
History of neurodevelopmental disorder 3 0 25 63 27 0 0 118
not specified 0 0 33 45 18 0 0 95
Inborn genetic diseases 37 1 2 0 0 0 0 40
Intellectual disability 8 1 2 7 0 0 0 18
Coffin-Siris syndrome 1 4 1 0 0 0 0 6
See cases 3 3 0 0 0 0 0 6
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 4 0 0 0 0 0 0 4
Coffin Siris/Intellectual Disability 2 0 2 0 0 0 0 4
Autism spectrum disorder 0 2 0 0 0 0 0 2
Marfanoid habitus and intellectual disability 0 2 0 0 0 0 0 2
Microcephaly 1 0 1 0 0 0 0 2
Astrocytoma 0 0 1 0 0 0 0 1
Congenital cerebellar hypoplasia; Corpus callosum, agenesis of 0 1 0 0 0 0 0 1
Corpus callosum, agenesis of; Hypertrichosis; Global developmental delay; Neonatal hypotonia; Nail dysplasia 1 0 0 0 0 0 0 1
Global developmental delay 1 0 0 0 0 0 0 1
Hypertrichosis; Global developmental delay; Bilateral cryptorchidism; Delayed speech and language development; Intellectual disability; Neurological speech impairment 0 1 0 0 0 0 0 1
Medulloblastoma 0 0 0 0 0 1 0 1
Neurodevelopmental delay 0 0 1 0 0 0 0 1
Nicolaides-Baraitser syndrome 1 0 0 0 0 0 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 0 1
Seizures 0 0 1 0 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 0 1
Seizures; Short stature; Failure to thrive; Constipation; Recurrent respiratory infections; Microcephaly; Decreased body weight 0 0 1 0 0 0 0 1
Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangiomas; Congenital talipes calcaneovalgus 1 0 0 0 0 0 0 1
Wiedemann-Steiner syndrome 0 1 0 0 0 0 0 1
intellectual deficiency; dysmorphy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Ambry Genetics 40 1 27 63 27 0 0 158
Genetic Services Laboratory, University of Chicago 17 2 30 42 18 0 0 109
GeneDx 84 8 11 2 0 0 0 105
CeGaT Praxis fuer Humangenetik Tuebingen 7 4 19 9 0 0 0 39
Baylor Genetics 19 2 15 0 0 0 0 36
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 4 9 3 0 0 17
Invitae 8 0 1 2 5 0 0 16
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 1 8 1 0 0 0 15
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 9 4 0 0 0 0 0 13
OMIM 12 0 0 0 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 2 6 4 0 0 0 0 11
Gharavi Laboratory,Columbia University 0 0 10 0 0 0 0 10
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 8 1 0 0 0 0 0 9
Diagnostic Laboratory, Strasbourg University Hospital 7 0 1 1 0 0 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 6 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 5 1 0 0 0 0 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 2 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 0 0 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 4 0 0 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 0 6
Institute of Human Genetics, Klinikum rechts der Isar 5 0 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 0 0 0 0 0 0 5
Institute of Human Genetics,Cologne University 2 2 0 0 0 0 0 4
Mendelics 4 0 0 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 1 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 0 0 0 0 4
New York Genome Center 0 1 3 0 0 0 0 4
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 2 0 0 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 2 0 0 0 0 0 3
Laboratory of Molecular Genetics,CHU RENNES 0 3 0 0 0 0 0 3
Autoinflammatory diseases unit,CHU de Montpellier 1 2 0 0 0 0 0 3
Clinical Genetics laboratory, University of Goettingen 1 0 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 1 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
ISCA site 1 1 1 0 0 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 1 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 0 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Lineagen, Inc 1 0 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 1 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 0 0 0 0 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 1 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 0 1
Human Developmental Genetics,Institut Pasteur 0 0 1 0 0 0 0 1
Department of Pediatrics,Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 0 1

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